List of variants reported as likely pathogenic for combined oxidative phosphorylation deficiency by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)	rs144042123	0.00052
NM_024537.4(CARS2):c.649_651del (p.Glu217del)	rs753472937	0.00001
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu)	rs2030801584
NM_152269.5(MTRFR):c.248del (p.Val83fs)	rs587776508

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